Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1850573
Disease: Slender build
Slender build 		31 0 5 6.2E-02 0 0
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		14 0 4 6.2E-02 0 0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0 		14 24 4 6.2E-02 2 6.2E-02
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		67 0 7 6.1E-02 0 0
CUI: C0013421
Disease: Dystonia
Dystonia 		453 0 29 6.1E-02 0 0
CUI: C0014877
Disease: Esotropia
Esotropia 		121 39 10 6.0E-02 2 4.3E-02
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism 		33 0 5 6.0E-02 0 0
CUI: C0752098
Disease: Autosomal Dominant Parkinsonism
Autosomal Dominant Parkinsonism 		34 0 5 6.0E-02 0 0
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		17 0 4 5.9E-02 0 0
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		17 0 4 5.9E-02 0 0
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 23 5.8E-02 1 3.9E-03
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 7 5.7E-02 0 0
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		19 0 4 5.7E-02 0 0
CUI: C0850703
Disease: Frequent falls
Frequent falls 		94 0 8 5.7E-02 0 0
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		57 0 6 5.7E-02 0 0
CUI: C1857482
Disease: Slender finger
Slender finger 		20 0 4 5.6E-02 0 0
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		133 0 10 5.6E-02 0 0
CUI: C0239882
Disease: Head tremor
Head tremor 		21 0 4 5.6E-02 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 5 5.6E-02 0 0
CUI: C1843921
Disease: Postural instability
Postural instability 		60 0 6 5.5E-02 0 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		80 0 7 5.5E-02 0 0
CUI: C1611706
Disease: Myosclerosis
Myosclerosis 		3 0 3 5.5E-02 0 0
CUI: C1850851
Disease: Distal joint laxity
Distal joint laxity 		3 0 3 5.5E-02 0 0
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia 		3 0 3 5.5E-02 0 0
CUI: C3887667
Disease: Retrocollis
Retrocollis 		3 0 3 5.5E-02 0 0